InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: PC

Summary

InnateDB Gene

IDBG-59727.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

Gene Name

pyruvate carboxylase

Synonyms

PCB

Species

Homo sapiens

Ensembl Gene

ENSG00000173599

Encoded Proteins

IDBP-242563

pyruvate carboxylase

IDBP-242565

pyruvate carboxylase

IDBP-242567

pyruvate carboxylase

IDBP-595723

pyruvate carboxylase

IDBP-586029

pyruvate carboxylase

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]
This gene encodes pyruvate carboxylase, which requires biotin and ATP to catalyse the carboxylation of pyruvate to oxaloacetate. The active enzyme is a homotetramer arranged in a tetrahedron which is located exclusively in the mitochondrial matrix. Pyruvate carboxylase is involved in gluconeogenesis, lipogenesis, insulin secretion and synthesis of the neurotransmitter glutamate. Mutations in this gene have been associated with pyruvate carboxylase deficiency. Alternatively spliced transcript variants with different 5\' UTRs, but encoding the same protein, have been found for this gene. [provided by RefSeq, Jul 2008]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 11:66848233-66958376

Strand

Reverse strand

Band

q13.2

Transcripts

ENST00000393960	ENSP00000377532
ENST00000393958	ENSP00000377530
ENST00000393955	ENSP00000377527
ENST00000529047	ENSP00000435905
ENST00000528224
ENST00000529352
ENST00000530259
ENST00000530187
ENST00000524491	ENSP00000434192
ENST00000531614
ENST00000528403
ENST00000534194
ENST00000525476

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	21 [view]
Protein-DNA	1 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0003677	DNA binding
GO:0003824	catalytic activity
GO:0004075	biotin carboxylase activity
GO:0004736	pyruvate carboxylase activity
GO:0005515	protein binding
GO:0005524	ATP binding
GO:0008716	D-alanine-D-alanine ligase activity
GO:0009374	biotin binding
GO:0016874	ligase activity
GO:0031406	carboxylic acid binding
GO:0046872	metal ion binding

Biological Process

GO:0005975	carbohydrate metabolic process
GO:0006006	glucose metabolic process
GO:0006090	pyruvate metabolic process
GO:0006094	gluconeogenesis
GO:0006107	oxaloacetate metabolic process
GO:0006629	lipid metabolic process
GO:0006766	vitamin metabolic process
GO:0006767	water-soluble vitamin metabolic process
GO:0006768	biotin metabolic process
GO:0008152	metabolic process
GO:0044281	small molecule metabolic process